Mainas Alexandros, Maina Anna, Ziogas Nikolaos, Papoulidis Ioannis, Athanasiadis Apostolos
Prenatal Diagnosis Centre, 69132 Komotini, Greece.
Department of Anatomy, School of Medicine, University of Cyprus, Aglantzia, 2029 Nicosia, Cyprus.
Biomed Rep. 2025 May 2;23(1):110. doi: 10.3892/br.2025.1988. eCollection 2025 Jul.
Tricho-hepato-enteric (THES) syndrome is a severe congenital diarrheal disorder. It is caused by homozygous or compound heterozygous mutations in the (THES1) or (THES2) gene. Primary manifestations include nine clinical signs: Ιntractable diarrhea, hair abnormalities, facial dysmorphism, IUGR, immunodeficiency, skin abnormalities, liver disease, congenital cardiac defects and platelet anomalies in the 96 cases reported to date. Α case of early, isolated severe fetal growth restriction with a non-placental etiology is presented, consistent with postnatal findings reported in the literature. Furthermore, this case introduces two novel prenatal ultrasound findings: Severe echogenic bowel, and dolichocephaly in contribution to the limited body of knowledge. Trio-whole exome sequencing (WES) analysis revealed that the embryo was compound heterozygous for two mutations in , both of which were of parental origin. The report also discusses potential mechanisms underlying the observed ultrasound signs, highlighting that the expanded application of WES in prenatal settings will add more cases of sporadic disorder.
毛发-肝脏-肠道（THES）综合征是一种严重的先天性腹泻疾病。它由（THES1）或（THES2）基因的纯合或复合杂合突变引起。主要表现包括九个临床体征：在迄今报告的96例病例中，有顽固性腹泻、毛发异常、面部畸形、宫内生长受限、免疫缺陷、皮肤异常、肝脏疾病、先天性心脏缺陷和血小板异常。本文报告了一例早期、孤立的非胎盘病因导致的严重胎儿生长受限病例，与文献报道的产后表现一致。此外，该病例还引入了两个新的产前超声检查结果：严重的肠回声增强和长头畸形，这为有限的知识体系做出了贡献。三联体全外显子测序（WES）分析显示，该胚胎在 基因中有两个突变的复合杂合子，这两个突变均来自父母。该报告还讨论了观察到的超声征象背后的潜在机制，强调WES在产前环境中的广泛应用将增加更多散发性疾病的病例。
